Retinitis pigmentosa 89
Summary
Available tests
Clinical tests (1 available)
Molecular Genetics Tests
Clinical features
Help- Abnormality of limbs
- Postaxial polydactyly
Postaxial polydactyly
- MedGen UID: 67394
- Concept ID: C0220697
- Finding: Congenital Abnormality
Abnormality of limbs
- Postaxial polydactyly
- Abnormality of the cardiovascular system
- Bicuspid aortic valve
Bicuspid aortic valve
- MedGen UID: 57436
- Concept ID: C0149630
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Bicuspid aortic valve
- Abnormality of the digestive system
- Esophageal varix
Esophageal varix
- MedGen UID: 5027
- Concept ID: C0014867
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Hepatic fibrosis
Hepatic fibrosis
- MedGen UID: 116093
- Concept ID: C0239946
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Hepatosplenomegaly
Hepatosplenomegaly
- MedGen UID: 9225
- Concept ID: C0019214
- Finding: Sign or Symptom
Abnormality of the digestive system
- Intrahepatic bile duct dilatation
Intrahepatic bile duct dilatation
- MedGen UID: 903901
- Concept ID: C4229071
- Finding: Anatomical Abnormality
Abnormality of the digestive system
- Micronodular cirrhosis
Micronodular cirrhosis
- MedGen UID: 75640
- Concept ID: C0267812
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Esophageal varix
- Abnormality of the eye
- Abnormal light-adapted flicker electroretinogram
Abnormal light-adapted flicker electroretinogram
- MedGen UID: 892764
- Concept ID: C4072963
- Finding: Finding
Abnormality of the eye
- Constriction of peripheral visual field
Constriction of peripheral visual field
- MedGen UID: 68613
- Concept ID: C0235095
- Finding: Finding
Abnormality of the eye
- Hyperautofluorescent retinal lesion
Hyperautofluorescent retinal lesion
- MedGen UID: 1368849
- Concept ID: C4476623
- Finding: Finding
Abnormality of the eye
- Night blindness
Night blindness
- MedGen UID: 10349
- Concept ID: C0028077
- Finding: Disease or Syndrome
Abnormality of the eye
- Retinal thinning
Retinal thinning
- MedGen UID: 762617
- Concept ID: C3549703
- Finding: Finding
Abnormality of the eye
- Rod-cone dystrophy
Rod-cone dystrophy
- MedGen UID: 1632921
- Concept ID: C4551714
- Finding: Disease or Syndrome
Abnormality of the eye
- Abnormal light-adapted flicker electroretinogram
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